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Law & Psychiatry: Genetic Discrimination in Mental Disorders: The Impact of the Genetic Information Nondiscrimination Act
Paul S. Appelbaum, M.D.
Psychiatric Services 2010; doi: 10.1176/appi.ps.61.4.338
View Author and Article Information

Dr. Appelbaum, who is editor of this column, is the Elizabeth K. Dollard Professor of Psychiatry, Medicine and Law, Department of Psychiatry, Columbia University. Send correspondence to him at New York State Psychiatric Institute, 1051 Riverside Dr., Unit 122, New York, NY 10032 (e-mail: psa21@columbia.edu).

Abstract

Genetics is one of the most active areas of research on mental disorders. As genetic tests related to psychiatric disorders and their treatments proliferate in research and clinical settings, the possibility becomes more troubling that such information will be used for purposes other than those for which it was collected. Because of this, the federal Genetic Information Nondiscrimination Act of 2008 is of substantial importance to persons with mental disorders, persons at risk for the conditions, and family members of both groups. This column discusses the process of passing the legislation, along with the implications of the act. (Psychiatric Services 61:338–340, 2010)

Abstract Teaser
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Because of recent research on the genetics of mental disorders, candidates for genes associated with major illnesses, such as schizophrenia and depression, have been identified (1,2), and entirely new understandings of genetic liability to complex conditions, among them schizophrenia and autism, have been elaborated (3,4). In the clinical realm, the likelihood can now be estimated of developing conditions with psychiatric sequelae—Huntington's disease and certain forms of Alzheimer's disease are prominent examples (5,6). Causal links to rarer conditions like DiGeorge's syndrome, which produces a schizophrenia-like picture, have been established (7). Clinical genetic testing also has made its appearance in the growing field of psychiatric pharmacogenetics, with genetic variations being used today to predict responses to medications, including the popular selective serotonin reuptake inhibitors (8).

As genetic assays related to psychiatric disorders and their treatments proliferate in research and clinical settings, the possibility becomes more troubling that such information will be used for purposes other than those for which it was collected. Genetic data might be useful to health, disability, and long-term care insurers looking to avoid coverage of persons with an increased propensity to develop conditions that may require high levels of care, and it may be useful to life insurance companies seeking to avoid serving clients with a reduced life expectancy. Employers, whose rates for health and disability coverage are affected by the extent to which their workforce draws on these policies, may be similarly motivated to cull applicants on the basis of their genetic load for future diseases. Indeed, the public at large has expressed considerable concern over access by insurers and employers to genetic information (9).

For just these reasons, the staged implementation of the federal Genetic Information Nondiscrimination Act (GINA) of 2008 is of substantial importance to persons with mental disorders, persons at risk for the conditions, and family members of both groups (10). GINA's course toward passage by Congress was tortuous, beginning in 1993 when genetic antidiscrimination provisions were included in President Clinton's health care reform proposal. With the defeat of that effort, separate bills to protect genetic data were introduced in 1995 and every year thereafter. However, GINA in its final form was not signed into law until May 2008 (11). The final provisions of the bill will take effect this year. Resistance to GINA came from business groups, which were concerned with possible increased liability risk should they be accused of using genetic information impermissibly, and from the insurance industry, which appeared reluctant to surrender a potentially useful underwriting tool.

In framing their opposition to legislation, employers pointed to the meager evidence that genetic information had been used in a discriminatory fashion in the workplace. Indeed, only a handful of cases alleging impermissible acquisition and use of genetic data have made their way to the courts, and they appear to have been resolved successfully under the more general provisions of the Americans With Disabilities Act (12). Insurers similarly argued that the evidence of their having used genetic data to exclude people from coverage was essentially nonexistent (13), although more recent Australian research has challenged that claim (14). Perhaps more cogently, insurers also posited the unfairness of depriving them of information regarding genetic risk that might already be in the possession of their clients. Appropriate premiums could not be calculated when applicants for coverage knew that they were disproportionately susceptible to disability or early demise, and thus applicants would have an incentive to purchase large amounts of insurance that would soon lead to substantial claims. This asymmetry of information—which the industry describes by the term "moral hazard"—raises the specter of undermining insurers' actuarial models and driving up the costs of insurance for everyone. Nor were insurers the only ones to raise these issues, which find support in the medical and bioethical literatures (15).

In the end, however, a different set of concerns won out, at least as far as employment and health insurance were concerned. Studies showed that fears of discrimination were inhibiting the use of genetic tests by patients and clinicians alike (16). The many millions of dollars spent on genetic research, including the much acclaimed Human Genome Project, were unlikely to yield the desired fruits—better treatment and prevention of illnesses—if the public was reluctant to utilize the tests. Moreover, the research enterprise itself might be stymied by fears that information could be used to participants' detriment, as institutional review boards were routinely requiring researchers to notify potential subjects of the risks they were running by creating a genetic paper trail. In addition, there was a sense that depriving persons of employment and health insurance because of inherited liabilities to disease constituted a decidedly unfair additional blow to a group that was already at a disadvantage in society (17). The probability that genetic information would be used irrationally by employers and insurers, who might be prone to exclude persons who carried mutations that did not increase their risk of illness, was another helpful argument for advocates (18).

By the time GINA was adopted, the desirability of providing protection to workers and persons seeking health insurance coverage was so generally accepted that 47 states had passed legislation aimed at that end (11). State laws, however, could not cover health insurance policies provided by most large employers, which are governed by federal statutes, and otherwise tended to be incomplete and applied inconsistently. At the federal level, as GINA and its precursors were pending in Congress, the Health Insurance Portability and Accountability Act of 1996 had provided some limited protections against discrimination in group health plans by insurers, and President Clinton had signed an executive order in 2000 precluding the federal government from engaging in genetic discrimination in employment decisions (19). By 2008 the stage was set and sufficient political support existed for the adoption of more comprehensive federal legislation.

GINA's major sections, Titles I and II, address health insurance and employment contexts, respectively. Title I bars health insurers from requesting genetic information from clients, including requiring clients to undergo genetic tests, and from using genetic information obtained from other sources to make coverage decisions or to set premiums. In comparable fashion, Title II prohibits employers from mandating that workers be tested for genetic propensities to illness and from using genetic information that may otherwise come to their attention for a range of employment-related decisions, including hiring, promotion, and termination. Violations of either title are subject to substantial monetary penalties.

The definition of genetic information in GINA is quite broad, covering genetic tests performed on a person or on family members (because the latter may have implications for the person's risk status) and information about "the manifestation of a disease or disorder in family members of such individual." An example of the importance of including family history in the definition of information covered by the statute comes from Hong Kong, where the local government adopted a rule excluding persons with first-degree relatives who had a "mental disorder of a hereditary nature" from employment in law enforcement and in the fire and ambulance services (20). The ban appears to have been based on the belief that people with mental disorders have a substantially higher rate of violence—a questionable assumption in its own right. When suit was brought by applicants to the fire, customs, and ambulance services, international experts in the genetics of mental disorders testified as to the provision's irrationality, and the rule was overturned by the Hong Kong courts (20).

For all the effort that went into passing GINA, the statute is circumscribed in a number of important ways. Health insurance decisions cannot be made on the basis of genetic or family history information indicating a latent risk for disorder, but persons can still be excluded by virtue of conditions that have already become manifest. Only legislation mandating universal health insurance coverage is likely to overcome this insurance industry policy of declining to cover persons with preexisting conditions—arguably the persons who need coverage more than anyone but who are also the most expensive to insure. Moreover, GINA's scope is limited to health insurance; discrimination in underwriting decisions for other forms of protection, including life, disability, long-term care, and mortgage insurance are not restricted by the statute. The effectiveness of GINA in encouraging testing for health care and research therefore will depend on whether the potential for discrimination regarding these other forms of insurance is of markedly less concern to the public than it is for health coverage (21).

Given the characteristics of the genetics of mental disorders so far evident, discrimination on the basis of genetic testing for psychiatric disorders may not have been all that easy even without the legislation. Candidate genes for the major mental disorders have generally had relatively little predictive ability. This may be because the manifestation of a disorder in psychiatry generally depends on both an underlying genetic tendency and exposure to specific environmental circumstances—the so-called "gene-environment interaction" hypothesis (22). Moreover, even the genetic component of risk of mental illness may depend on multiple mutations, perhaps even of relatively nonspecific forms, which cumulatively induce the onset of a disorder; recent evidence suggests that schizophrenia and autism may fall into this category (3,4). Thus extensive information about a person's genome and psychosocial influences may be necessary to anticipate the probability that a disorder will develop. GINA's impact on psychiatry might thus be more limited than in other areas of medicine.

On the other hand, family history information on many mental disorders can be quite useful in identifying risk categories for close relatives. The sibling of a person with schizophrenia, for example, is at roughly 9% risk of developing the disorder him- or herself (23). And the stigmatizing impact of being known to carry even a single, low-impact gene associated with a mental disorder should not be underestimated, particularly in the workplace where decision makers are not likely to have a sophisticated understanding of genetics. For all of its limitations, therefore, GINA may turn out to be every bit as important in protecting persons from discrimination on the basis of a propensity to develop a mental disorder as it is likely to be for general medical conditions. When questions about genetic testing arise, clinicians should make every effort to ensure that their patients are aware of GINA and related state laws and that they have an accurate understanding of the protections that these regulations provide.

O'Donovan MC, Craddock N, Norton N, et al: Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics 40:1053–1055, 2008
 
Lopez-Leon S, Janssens AC, Bonzalez-Zuloeta A, et al: Meta-analyses of genetics studies on major depressive disorder. Molecular Psychiatry 13:772–785, 2008
 
Walsh T, McClellan JM, McCarthy SE, et al: Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320:539–543, 2008
 
Sebat J, Lakshmi B, Malhotra D, et al: Strong association of de novo copy number mutations with autism. Science 316:445–449, 2007
 
Myers RH: Huntington's disease genetics. NeuroRx: Journal of the American Society for Experimental NeuroTherapeutics 1:255–262, 2004
 
St George-Hyslop PH, Petit A: Molecular biology and genetics of Alzheimer's disease. Comptes Rendus Biologies 328:119–130, 2005
 
Bassett AS, Chow EW, AbdelMalik P, et al: The schizophrenia phenotype in 22q11 deletion syndrome. American Journal of Psychiatry 160:1580–1586, 2003
 
Kirchheiner J, Fuhr U, Brockmoller J, et al: Pharmacogenetics-based therapeutic recommendations—ready for clinical practice? Nature Reviews: Drug Discovery 4:639–647, 2005
 
Hudson KL: Prohibiting genetic discrimination. New England Journal of Medicine 356:2021–2023, 2007
 
Genetic Information Nondiscrimination Act of 2008, Public Law 110–233, May 21, 2008
 
Roberts JL: Preempting discrimination: lessons from the Genetic Information Nondiscrimination Act. Vanderbilt Law Review, in press
 
Americans With Disabilities Act, 42 USC 126
 
Morrow JS: Insuring fairness: the popular creation of genetic antidiscrimination. Georgetown Law Journal 98:215–246, 2009
 
Barlow-Stuart K, Taylor SD, Treloar SA, et al: Verification of consumers' experiences and perceptions of genetic discrimination and its impact on utilization of genetic testing. Genetics in Medicine 11:193–201, 2009
 
Holm S: Should genetic information be disclosed to insurers? Yes. British Medical Journal 334:1196, 2007
 
Lowstuter KJ, Sand S, Blazer KR, et al: Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians. Genetics in Medicine 10:691–698, 2008
 
Fiering E: Reassessing insurers' access to genetic information: genetic privacy, ignorance, and injustice. Bioethics 23:300–310, 2009
 
Ashcroft R: Should genetic information be disclosed to insurers? No. British Medical Journal 334:1197, 2007
 
Executive Order No 13145, Feb 8, 2000
 
Wong JG, Lieh-Mak F: Genetic discrimination and mental illness: a case report. Journal of Medical Ethics 27:393–397, 2001
 
Hellman D: What makes genetic discrimination exceptional? American Journal of Law and Medicine 29:77–116, 2003
 
Rutter M, Moffitt TE, Caspi A: Gene-environment interplay and psychopathology: multiple varieties but real effects. Journal of Child Psychology and Psychiatry 47:226–261, 2006
 
Gottesman IL: Schizophrenia Genesis: The Origin of Madness. New York, Freeman, 1991
 
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References

O'Donovan MC, Craddock N, Norton N, et al: Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics 40:1053–1055, 2008
 
Lopez-Leon S, Janssens AC, Bonzalez-Zuloeta A, et al: Meta-analyses of genetics studies on major depressive disorder. Molecular Psychiatry 13:772–785, 2008
 
Walsh T, McClellan JM, McCarthy SE, et al: Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320:539–543, 2008
 
Sebat J, Lakshmi B, Malhotra D, et al: Strong association of de novo copy number mutations with autism. Science 316:445–449, 2007
 
Myers RH: Huntington's disease genetics. NeuroRx: Journal of the American Society for Experimental NeuroTherapeutics 1:255–262, 2004
 
St George-Hyslop PH, Petit A: Molecular biology and genetics of Alzheimer's disease. Comptes Rendus Biologies 328:119–130, 2005
 
Bassett AS, Chow EW, AbdelMalik P, et al: The schizophrenia phenotype in 22q11 deletion syndrome. American Journal of Psychiatry 160:1580–1586, 2003
 
Kirchheiner J, Fuhr U, Brockmoller J, et al: Pharmacogenetics-based therapeutic recommendations—ready for clinical practice? Nature Reviews: Drug Discovery 4:639–647, 2005
 
Hudson KL: Prohibiting genetic discrimination. New England Journal of Medicine 356:2021–2023, 2007
 
Genetic Information Nondiscrimination Act of 2008, Public Law 110–233, May 21, 2008
 
Roberts JL: Preempting discrimination: lessons from the Genetic Information Nondiscrimination Act. Vanderbilt Law Review, in press
 
Americans With Disabilities Act, 42 USC 126
 
Morrow JS: Insuring fairness: the popular creation of genetic antidiscrimination. Georgetown Law Journal 98:215–246, 2009
 
Barlow-Stuart K, Taylor SD, Treloar SA, et al: Verification of consumers' experiences and perceptions of genetic discrimination and its impact on utilization of genetic testing. Genetics in Medicine 11:193–201, 2009
 
Holm S: Should genetic information be disclosed to insurers? Yes. British Medical Journal 334:1196, 2007
 
Lowstuter KJ, Sand S, Blazer KR, et al: Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians. Genetics in Medicine 10:691–698, 2008
 
Fiering E: Reassessing insurers' access to genetic information: genetic privacy, ignorance, and injustice. Bioethics 23:300–310, 2009
 
Ashcroft R: Should genetic information be disclosed to insurers? No. British Medical Journal 334:1197, 2007
 
Executive Order No 13145, Feb 8, 2000
 
Wong JG, Lieh-Mak F: Genetic discrimination and mental illness: a case report. Journal of Medical Ethics 27:393–397, 2001
 
Hellman D: What makes genetic discrimination exceptional? American Journal of Law and Medicine 29:77–116, 2003
 
Rutter M, Moffitt TE, Caspi A: Gene-environment interplay and psychopathology: multiple varieties but real effects. Journal of Child Psychology and Psychiatry 47:226–261, 2006
 
Gottesman IL: Schizophrenia Genesis: The Origin of Madness. New York, Freeman, 1991
 
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